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Flecainide-Responsive Myotonia Permanens With SNEL Onset: A New Case and Literature Review
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Sodium channel myotonias are inherited muscle diseases linked to mutations in the voltage-gated sodium channel. These diseases may also affect newborns with variable symptoms. More recently, severe neonatal episodic laryngospasm (SNEL) has been described in a small number of patients. A timely diagnosis of SNEL is crucial because a specific treatment is now available that will likely reduced laryngospasm and improve vital and cerebral outcomes. We report here on an 8-year-old girl who had presented, at birth, with SNEL who subsequently developed myotonia permanens starting at age 3 years. Results of molecular analysis revealed a de novo SCN4A G1306E mutation. The girl was treated with carbamazepine, acetazolamide, and mexiletine, with little improvement; after switching her treatment to flecainide, she experienced a dramatic reduction in muscle stiffness and myotonic symptoms as well as an improvement in behavior.
American Academy of Pediatrics (AAP)
Title: Flecainide-Responsive Myotonia Permanens With SNEL Onset: A New Case and Literature Review
Description:
Sodium channel myotonias are inherited muscle diseases linked to mutations in the voltage-gated sodium channel.
These diseases may also affect newborns with variable symptoms.
More recently, severe neonatal episodic laryngospasm (SNEL) has been described in a small number of patients.
A timely diagnosis of SNEL is crucial because a specific treatment is now available that will likely reduced laryngospasm and improve vital and cerebral outcomes.
We report here on an 8-year-old girl who had presented, at birth, with SNEL who subsequently developed myotonia permanens starting at age 3 years.
Results of molecular analysis revealed a de novo SCN4A G1306E mutation.
The girl was treated with carbamazepine, acetazolamide, and mexiletine, with little improvement; after switching her treatment to flecainide, she experienced a dramatic reduction in muscle stiffness and myotonic symptoms as well as an improvement in behavior.
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